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CPT1C (carnitine palmitoyltransferase 1C)

Identity

Alias_symbol (synonym)FLJ23809
CPTIC
CPT1P
Other aliasCATL1
CPT1-B
CPTI-B
SPG73
HGNC (Hugo) CPT1C
LocusID (NCBI) 126129
Atlas_Id 62067
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50194365 and ends at 50216988 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
JAZF1 (7p15.2) / CPT1C (19q13.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CPT1C   18540
Cards
Entrez_Gene (NCBI)CPT1C  126129  carnitine palmitoyltransferase 1C
AliasesCATL1; CPT1-B; CPT1P; CPTI-B; 
CPTIC; SPG73
GeneCards (Weizmann)CPT1C
Ensembl hg19 (Hinxton)ENSG00000169169 [Gene_View]  chr19:50194365-50216988 [Contig_View]  CPT1C [Vega]
Ensembl hg38 (Hinxton)ENSG00000169169 [Gene_View]  chr19:50194365-50216988 [Contig_View]  CPT1C [Vega]
ICGC DataPortalENSG00000169169
TCGA cBioPortalCPT1C
AceView (NCBI)CPT1C
Genatlas (Paris)CPT1C
WikiGenes126129
SOURCE (Princeton)CPT1C
Genetics Home Reference (NIH)CPT1C
Genomic and cartography
GoldenPath hg19 (UCSC)CPT1C  -     chr19:50194365-50216988 +  19q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CPT1C  -     19q13.33   [Description]    (hg38-Dec_2013)
EnsemblCPT1C - 19q13.33 [CytoView hg19]  CPT1C - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBICPT1C [Mapview hg19]  CPT1C [Mapview hg38]
OMIM608846   616282   
Gene and transcription
Genbank (Entrez)AB208884 AF357970 AK074389 AK096516 AK289713
RefSeq transcript (Entrez)NM_001136052 NM_001199752 NM_001199753 NM_152359
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)CPT1C
Cluster EST : UnigeneHs.112195 [ NCBI ]
CGAP (NCI)Hs.112195
Alternative Splicing GalleryENSG00000169169
Gene ExpressionCPT1C [ NCBI-GEO ]   CPT1C [ EBI - ARRAY_EXPRESS ]   CPT1C [ SEEK ]   CPT1C [ MEM ]
Gene Expression Viewer (FireBrowse)CPT1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126129
GTEX Portal (Tissue expression)CPT1C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCG5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCG5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCG5
Splice isoforms : SwissVarQ8TCG5
Catalytic activity : Enzyme2.3.1.21 [ Enzyme-Expasy ]   2.3.1.212.3.1.21 [ IntEnz-EBI ]   2.3.1.21 [ BRENDA ]   2.3.1.21 [ KEGG ]   
PhosPhoSitePlusQ8TCG5
Domaine pattern : Prosite (Expaxy)ACYLTRANSF_C_1 (PS00439)    ACYLTRANSF_C_2 (PS00440)   
Domains : Interpro (EBI)Carn_acyl_trans   
Domain families : Pfam (Sanger)Carn_acyltransf (PF00755)   
Domain families : Pfam (NCBI)pfam00755   
Conserved Domain (NCBI)CPT1C
DMDM Disease mutations126129
Blocks (Seattle)CPT1C
PDB (SRS)2M76   
PDB (PDBSum)2M76   
PDB (IMB)2M76   
PDB (RSDB)2M76   
Structural Biology KnowledgeBase2M76   
SCOP (Structural Classification of Proteins)2M76   
CATH (Classification of proteins structures)2M76   
SuperfamilyQ8TCG5
Human Protein AtlasENSG00000169169
Peptide AtlasQ8TCG5
HPRD12315
IPIIPI00152358   IPI00418747   IPI00168584   IPI00889681   IPI01018746   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCG5
IntAct (EBI)Q8TCG5
FunCoupENSG00000169169
BioGRIDCPT1C
STRING (EMBL)CPT1C
ZODIACCPT1C
Ontologies - Pathways
QuickGOQ8TCG5
Ontology : AmiGOcarnitine O-palmitoyltransferase activity  mitochondrial outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  fatty acid beta-oxidation  carnitine metabolic process  cell junction  alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex  synapse  
Ontology : EGO-EBIcarnitine O-palmitoyltransferase activity  mitochondrial outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  fatty acid beta-oxidation  carnitine metabolic process  cell junction  alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex  synapse  
Pathways : KEGGFatty acid degradation    PPAR signaling pathway    Adipocytokine signaling pathway   
NDEx NetworkCPT1C
Atlas of Cancer Signalling NetworkCPT1C
Wikipedia pathwaysCPT1C
Orthology - Evolution
OrthoDB126129
GeneTree (enSembl)ENSG00000169169
Phylogenetic Trees/Animal Genes : TreeFamCPT1C
HOVERGENQ8TCG5
HOGENOMQ8TCG5
Homologs : HomoloGeneCPT1C
Homology/Alignments : Family Browser (UCSC)CPT1C
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPT1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPT1C
dbVarCPT1C
ClinVarCPT1C
1000_GenomesCPT1C 
Exome Variant ServerCPT1C
ExAC (Exome Aggregation Consortium)CPT1C (select the gene name)
Genetic variants : HAPMAP126129
Genomic Variants (DGV)CPT1C [DGVbeta]
DECIPHER (Syndromes)19:50194365-50216988  ENSG00000169169
CONAN: Copy Number AnalysisCPT1C 
Mutations
ICGC Data PortalCPT1C 
TCGA Data PortalCPT1C 
Broad Tumor PortalCPT1C
OASIS PortalCPT1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPT1C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCPT1C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CPT1C
DgiDB (Drug Gene Interaction Database)CPT1C
DoCM (Curated mutations)CPT1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPT1C (select a term)
intoGenCPT1C
Cancer3DCPT1C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608846    616282   
Orphanet23482   
MedgenCPT1C
Genetic Testing Registry CPT1C
NextProtQ8TCG5 [Medical]
TSGene126129
GENETestsCPT1C
Huge Navigator CPT1C [HugePedia]
snp3D : Map Gene to Disease126129
BioCentury BCIQCPT1C
ClinGenCPT1C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126129
Chemical/Pharm GKB GenePA134922321
Clinical trialCPT1C
Miscellaneous
canSAR (ICR)CPT1C (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPT1C
EVEXCPT1C
GoPubMedCPT1C
iHOPCPT1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 12:00:15 CET 2017

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